Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:Pkdrej'

632499

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

067568-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85814670-85821734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 85818410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1108 (N1108K)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064370]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000064370
AA Change: N1108K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: N1108K

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:REJ	130	598	6.2e-116	PFAM
coiled coil region	657	687	N/A	INTRINSIC
low complexity region	942	947	N/A	INTRINSIC
GPS	984	1050	1.37e-2	SMART
transmembrane domain	1067	1089	N/A	INTRINSIC
LH2	1114	1230	3.35e-6	SMART
transmembrane domain	1274	1292	N/A	INTRINSIC
transmembrane domain	1312	1334	N/A	INTRINSIC
low complexity region	1407	1415	N/A	INTRINSIC
transmembrane domain	1451	1473	N/A	INTRINSIC
transmembrane domain	1483	1505	N/A	INTRINSIC
low complexity region	1571	1579	N/A	INTRINSIC
transmembrane domain	1581	1603	N/A	INTRINSIC
Pfam:PKD_channel	1621	2051	5.2e-154	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null males are fertile in unrestricted mating trials but show lower reproductive success in sequential mating and artificial insemination trials. Although mutant sperm are able to capacitate in vitro, they acquire exocytotic competence at a slower rate than wild-type sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,611 (GRCm38)	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715 (GRCm38)		probably null	Het
Atp7b	C	A	8: 22,028,560 (GRCm38)	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351 (GRCm38)	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873 (GRCm38)		probably null	Het
Cd37	A	G	7: 45,238,535 (GRCm38)	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533 (GRCm38)	M333K	probably benign	Het
Chtop	A	G	3: 90,505,393 (GRCm38)		probably null	Het
Cpa2	A	T	6: 30,544,905 (GRCm38)	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294 (GRCm38)	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589 (GRCm38)	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276 (GRCm38)	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294 (GRCm38)		probably null	Het
Fastkd5	A	T	2: 130,615,250 (GRCm38)	D473E	possibly damaging	Het
Fchsd1	T	C	18: 37,964,342 (GRCm38)	E372G	probably damaging	Het
Fgl1	T	C	8: 41,200,609 (GRCm38)		probably null	Het
Fzd8	T	G	18: 9,213,797 (GRCm38)	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151 (GRCm38)	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972 (GRCm38)	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290 (GRCm38)	R240C	probably damaging	Het
Hdac5	A	T	11: 102,197,355 (GRCm38)	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,383,871 (GRCm38)	S301G	probably benign	Het
Htra4	A	T	8: 25,030,558 (GRCm38)	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,583,741 (GRCm38)	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,995,541 (GRCm38)	I751T	probably damaging	Het
Magi3	T	C	3: 104,034,086 (GRCm38)	Y851C	probably damaging	Het
Mefv	A	G	16: 3,713,635 (GRCm38)	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,949,298 (GRCm38)	V397I	probably benign	Het
Mroh1	C	A	15: 76,433,873 (GRCm38)	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745 (GRCm38)	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346 (GRCm38)	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540 (GRCm38)	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,392,957 (GRCm38)	P22Q	probably damaging	Het
Olfr1179	T	C	2: 88,402,113 (GRCm38)	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239 (GRCm38)	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585 (GRCm38)	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113 (GRCm38)	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909 (GRCm38)	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497 (GRCm38)	R993H	probably benign	Het
Polr2a	C	T	11: 69,746,376 (GRCm38)	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297 (GRCm38)	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235 (GRCm38)	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501 (GRCm38)	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774 (GRCm38)	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355 (GRCm38)	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259 (GRCm38)	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690 (GRCm38)	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353 (GRCm38)	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176 (GRCm38)	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695 (GRCm38)	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278 (GRCm38)	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651 (GRCm38)	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681 (GRCm38)	Y323*	probably null	Het
Usp31	G	T	7: 121,649,026 (GRCm38)	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,796 (GRCm38)	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360 (GRCm38)	V552A		Het
Zap70	G	T	1: 36,771,181 (GRCm38)	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749 (GRCm38)	S91T	possibly damaging	Het

Other mutations in Pkdrej

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Pkdrej	APN	15	85,817,226 (GRCm38)	missense	probably damaging	1.00
IGL00981:Pkdrej	APN	15	85,819,656 (GRCm38)	missense	probably damaging	1.00
IGL01066:Pkdrej	APN	15	85,816,159 (GRCm38)	missense	probably benign	0.22
IGL01461:Pkdrej	APN	15	85,820,374 (GRCm38)	missense	possibly damaging	0.77
IGL01514:Pkdrej	APN	15	85,818,063 (GRCm38)	missense	possibly damaging	0.82
IGL01606:Pkdrej	APN	15	85,817,700 (GRCm38)	missense	possibly damaging	0.67
IGL01836:Pkdrej	APN	15	85,820,958 (GRCm38)	missense	probably damaging	1.00
IGL02089:Pkdrej	APN	15	85,816,288 (GRCm38)	missense	possibly damaging	0.87
IGL02197:Pkdrej	APN	15	85,815,793 (GRCm38)	missense	possibly damaging	0.89
IGL02331:Pkdrej	APN	15	85,821,327 (GRCm38)	missense	probably damaging	1.00
IGL02559:Pkdrej	APN	15	85,817,848 (GRCm38)	missense	probably benign
IGL02708:Pkdrej	APN	15	85,820,787 (GRCm38)	missense	probably damaging	1.00
IGL02739:Pkdrej	APN	15	85,819,694 (GRCm38)	missense	probably benign	0.41
IGL02741:Pkdrej	APN	15	85,817,430 (GRCm38)	missense	probably benign	0.04
IGL02882:Pkdrej	APN	15	85,817,296 (GRCm38)	missense	probably damaging	1.00
IGL02968:Pkdrej	APN	15	85,816,181 (GRCm38)	nonsense	probably null
IGL03250:Pkdrej	APN	15	85,821,355 (GRCm38)	missense	possibly damaging	0.92
FR4548:Pkdrej	UTSW	15	85,819,680 (GRCm38)	small insertion	probably benign
FR4737:Pkdrej	UTSW	15	85,819,680 (GRCm38)	small insertion	probably benign
PIT1430001:Pkdrej	UTSW	15	85,821,292 (GRCm38)	missense	probably damaging	0.99
PIT4280001:Pkdrej	UTSW	15	85,819,935 (GRCm38)	missense	probably benign	0.01
R0004:Pkdrej	UTSW	15	85,818,183 (GRCm38)	missense	probably damaging	1.00
R0116:Pkdrej	UTSW	15	85,817,545 (GRCm38)	nonsense	probably null
R0117:Pkdrej	UTSW	15	85,816,099 (GRCm38)	splice site	probably null
R0137:Pkdrej	UTSW	15	85,821,567 (GRCm38)	missense	possibly damaging	0.95
R0141:Pkdrej	UTSW	15	85,815,630 (GRCm38)	missense	probably damaging	0.99
R0325:Pkdrej	UTSW	15	85,819,551 (GRCm38)	missense	probably benign	0.08
R0714:Pkdrej	UTSW	15	85,815,511 (GRCm38)	missense	possibly damaging	0.85
R0749:Pkdrej	UTSW	15	85,818,074 (GRCm38)	missense	probably benign	0.43
R0750:Pkdrej	UTSW	15	85,818,074 (GRCm38)	missense	probably benign	0.43
R0755:Pkdrej	UTSW	15	85,816,135 (GRCm38)	missense	probably benign	0.00
R0938:Pkdrej	UTSW	15	85,818,163 (GRCm38)	missense	probably damaging	1.00
R1126:Pkdrej	UTSW	15	85,816,314 (GRCm38)	missense	probably damaging	0.99
R1204:Pkdrej	UTSW	15	85,818,312 (GRCm38)	missense	probably damaging	1.00
R1353:Pkdrej	UTSW	15	85,818,918 (GRCm38)	missense	probably damaging	1.00
R1471:Pkdrej	UTSW	15	85,817,133 (GRCm38)	missense	probably benign	0.37
R1510:Pkdrej	UTSW	15	85,816,762 (GRCm38)	missense	possibly damaging	0.61
R1573:Pkdrej	UTSW	15	85,818,074 (GRCm38)	missense	probably benign	0.43
R1588:Pkdrej	UTSW	15	85,817,241 (GRCm38)	missense	probably benign	0.44
R1739:Pkdrej	UTSW	15	85,820,427 (GRCm38)	missense	probably benign	0.03
R1779:Pkdrej	UTSW	15	85,821,171 (GRCm38)	missense	possibly damaging	0.83
R1781:Pkdrej	UTSW	15	85,821,171 (GRCm38)	missense	possibly damaging	0.83
R1828:Pkdrej	UTSW	15	85,819,282 (GRCm38)	missense	possibly damaging	0.48
R1865:Pkdrej	UTSW	15	85,820,324 (GRCm38)	nonsense	probably null
R1870:Pkdrej	UTSW	15	85,816,431 (GRCm38)	missense	probably damaging	1.00
R1937:Pkdrej	UTSW	15	85,819,167 (GRCm38)	missense	probably benign	0.00
R2069:Pkdrej	UTSW	15	85,821,231 (GRCm38)	missense	probably benign	0.01
R2113:Pkdrej	UTSW	15	85,818,984 (GRCm38)	missense	probably damaging	1.00
R2135:Pkdrej	UTSW	15	85,816,506 (GRCm38)	missense	probably damaging	1.00
R2428:Pkdrej	UTSW	15	85,817,572 (GRCm38)	nonsense	probably null
R2991:Pkdrej	UTSW	15	85,819,936 (GRCm38)	missense	probably benign	0.00
R3029:Pkdrej	UTSW	15	85,817,004 (GRCm38)	missense	probably benign	0.16
R3162:Pkdrej	UTSW	15	85,816,617 (GRCm38)	missense	probably damaging	1.00
R3162:Pkdrej	UTSW	15	85,816,617 (GRCm38)	missense	probably damaging	1.00
R3747:Pkdrej	UTSW	15	85,821,077 (GRCm38)	missense	probably damaging	0.96
R3748:Pkdrej	UTSW	15	85,821,077 (GRCm38)	missense	probably damaging	0.96
R3749:Pkdrej	UTSW	15	85,821,077 (GRCm38)	missense	probably damaging	0.96
R4028:Pkdrej	UTSW	15	85,817,492 (GRCm38)	missense	probably benign	0.02
R4169:Pkdrej	UTSW	15	85,816,314 (GRCm38)	missense	probably benign	0.24
R4241:Pkdrej	UTSW	15	85,818,144 (GRCm38)	missense	probably damaging	1.00
R4242:Pkdrej	UTSW	15	85,818,144 (GRCm38)	missense	probably damaging	1.00
R4705:Pkdrej	UTSW	15	85,821,167 (GRCm38)	nonsense	probably null
R4939:Pkdrej	UTSW	15	85,820,283 (GRCm38)	missense	possibly damaging	0.82
R4954:Pkdrej	UTSW	15	85,816,401 (GRCm38)	missense	probably damaging	0.99
R4974:Pkdrej	UTSW	15	85,820,409 (GRCm38)	missense	probably benign	0.00
R4982:Pkdrej	UTSW	15	85,818,996 (GRCm38)	missense	probably damaging	0.99
R5105:Pkdrej	UTSW	15	85,816,384 (GRCm38)	missense	probably damaging	1.00
R5270:Pkdrej	UTSW	15	85,818,327 (GRCm38)	missense	probably damaging	1.00
R5296:Pkdrej	UTSW	15	85,817,118 (GRCm38)	missense	possibly damaging	0.67
R5631:Pkdrej	UTSW	15	85,820,437 (GRCm38)	missense	probably benign
R5909:Pkdrej	UTSW	15	85,818,296 (GRCm38)	missense	possibly damaging	0.82
R5998:Pkdrej	UTSW	15	85,815,453 (GRCm38)	missense	probably benign	0.01
R6037:Pkdrej	UTSW	15	85,819,766 (GRCm38)	missense	probably damaging	0.99
R6037:Pkdrej	UTSW	15	85,819,766 (GRCm38)	missense	probably damaging	0.99
R6125:Pkdrej	UTSW	15	85,816,384 (GRCm38)	missense	probably damaging	1.00
R6270:Pkdrej	UTSW	15	85,821,105 (GRCm38)	nonsense	probably null
R6500:Pkdrej	UTSW	15	85,819,546 (GRCm38)	missense	probably damaging	0.98
R6776:Pkdrej	UTSW	15	85,817,309 (GRCm38)	nonsense	probably null
R6786:Pkdrej	UTSW	15	85,818,649 (GRCm38)	missense	probably benign
R6866:Pkdrej	UTSW	15	85,820,881 (GRCm38)	missense	probably damaging	1.00
R6954:Pkdrej	UTSW	15	85,817,853 (GRCm38)	nonsense	probably null
R7086:Pkdrej	UTSW	15	85,820,116 (GRCm38)	missense	probably damaging	1.00
R7231:Pkdrej	UTSW	15	85,816,188 (GRCm38)	missense	possibly damaging	0.55
R7233:Pkdrej	UTSW	15	85,821,148 (GRCm38)	missense	probably damaging	0.96
R7289:Pkdrej	UTSW	15	85,821,100 (GRCm38)	missense	probably benign
R7549:Pkdrej	UTSW	15	85,819,793 (GRCm38)	missense	probably damaging	1.00
R7582:Pkdrej	UTSW	15	85,818,921 (GRCm38)	missense	possibly damaging	0.92
R7677:Pkdrej	UTSW	15	85,815,587 (GRCm38)	missense	probably benign	0.01
R7791:Pkdrej	UTSW	15	85,815,931 (GRCm38)	missense	possibly damaging	0.87
R7873:Pkdrej	UTSW	15	85,816,523 (GRCm38)	missense	probably benign	0.29
R8121:Pkdrej	UTSW	15	85,815,454 (GRCm38)	missense	probably benign	0.00
R8219:Pkdrej	UTSW	15	85,821,292 (GRCm38)	missense	probably damaging	0.99
R8222:Pkdrej	UTSW	15	85,817,439 (GRCm38)	missense	probably benign
R8432:Pkdrej	UTSW	15	85,817,293 (GRCm38)	missense	probably benign	0.00
R8755:Pkdrej	UTSW	15	85,819,606 (GRCm38)	missense	probably benign	0.00
R8786:Pkdrej	UTSW	15	85,819,843 (GRCm38)	missense	probably benign	0.01
R8817:Pkdrej	UTSW	15	85,818,573 (GRCm38)	missense	probably damaging	1.00
R8827:Pkdrej	UTSW	15	85,815,531 (GRCm38)	missense	possibly damaging	0.76
R8966:Pkdrej	UTSW	15	85,817,811 (GRCm38)	missense	probably damaging	0.99
R8988:Pkdrej	UTSW	15	85,816,337 (GRCm38)	missense	probably damaging	0.99
R9028:Pkdrej	UTSW	15	85,816,897 (GRCm38)	missense	probably damaging	1.00
R9257:Pkdrej	UTSW	15	85,815,897 (GRCm38)	missense	probably damaging	1.00
R9279:Pkdrej	UTSW	15	85,816,633 (GRCm38)	missense	probably damaging	1.00
R9404:Pkdrej	UTSW	15	85,819,069 (GRCm38)	missense	probably benign	0.39
R9433:Pkdrej	UTSW	15	85,819,869 (GRCm38)	missense	probably benign	0.03
R9454:Pkdrej	UTSW	15	85,818,219 (GRCm38)	missense	probably benign	0.05
R9479:Pkdrej	UTSW	15	85,815,370 (GRCm38)	missense	possibly damaging	0.64
R9720:Pkdrej	UTSW	15	85,818,296 (GRCm38)	missense	possibly damaging	0.82
R9748:Pkdrej	UTSW	15	85,820,670 (GRCm38)	missense	possibly damaging	0.91
R9760:Pkdrej	UTSW	15	85,821,067 (GRCm38)	missense	probably benign	0.30
Z1177:Pkdrej	UTSW	15	85,816,537 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCCACACTCGGATGGAATG -3'
(R):5'- ACTGCTAAGGTAATTGTGGTCCC -3'

Sequencing Primer
(F):5'- CACTCGGATGGAATGGATATCCC -3'
(R):5'- TCCCTAACCCCGTGGATCTGAG -3'

Posted On

2020-06-30